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This paper reviews literature about oocyte donation for patients with Turner's syndrome and reports the experience of our center. Before contemplating pregnancy, it is essential to perform a careful evaluation of the cardiovascular system, the renal system, the thyroid status and the glucose tolerance. Different studies have reported a suboptimal response of the endometrium of women with Turner's syndrome to oestrogen therapy, and suggested that higher doses of estrogens may be necessary to achieve appropriate endometrial preparation. Pregnancy rate per transfer following oocyte donation is around 30% for patients with Turner's syndrome, comparable to the one observed for patients with other conditions requiring oocyte donation. Miscarriage rate is however higher (40-50%) after oocyte donation in Turner's syndrome, and could be related to the presence of a hypoplastic uterus along with hypovascularization. During pregnancy, cardiovascular complications are potentially the most severe, such as the exacerbation of a preexisting hypertension and the dissection of aortic aneurysms. There is a high rate of Caesarean section among Turner's syndrome patients, the main reason being fetopelvic disproportion. Regarding the increased obstetrical risks in Turner's syndrome patients, the selective transfer of one embryo should ideally be performed in order to avoid additional risks associated with multiple pregnancies. In our center, 9 patients with a Turner's syndrome had 15 cycles of oocyte donation. Five pregnancies were obtained among which three were evolutive. The outcome of oocyte donation cycles were comparable for patients with a Turner's syndrome and for patients with other indications of oocyte donation.
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PMID:[Turner's syndrome and oocyte donation]. 1266 Dec 87

Turner syndrome is a condition usually associated with reduced final height, gonadal dysgenesis, and thus insufficient circulating levels of female sex steroids, and infertility. A number of other signs and symptoms are seen more frequently with the syndrome. With respect to cardiac function, congenital malformations of the heart and the great vessels, hypertension and ischemic heart disease, and increased risk of aortic dissection are all conditions that the pediatrician or the physician caring for females with Turner syndrome should keep in mind. Many girls and adolescents with Turner syndrome receive growth hormone (GH) treatment, which has so far been an effective and well-tolerated therapy. Nevertheless, because of the experience from acromegaly, the physician should monitor blood pressure and perform echocardiography, together with clinical examinations by a cardiologist at regular intervals. During adulthood most women with Turner syndrome are faced with premature menopause and the need for female hormone replacement therapy (HRT). During clinical evaluation of girls and women with Turner syndrome, these conditions and complications should be kept under surveillance. Here the cardiovascular complications of Turner syndrome are reviewed. The risk of congenital heart defects such as bicuspid aortic valves, aortic coarctation, other valve abnormalities, and septal defect is increased. Likewise, the risk of aortic dissection at a young age is increased, as is the risk of hypertension, ischemic heart disease, and stroke. GH therapy does not seem to adversely affect the heart, although longer-term follow-up studies are needed. In short-term studies, HRT lowers blood pressure, while any effect on the risk of ischemic heart disease has not been evaluated. Treatment with GH and HRT are discussed in relation to the heart and great vessels. Presently, the pathophysiology of the congenital cardiovascular malformation in Turner syndrome is unexplained, although different theories exist. Recommendations for clinical practice are given, including life-long surveillance of cardiac function, aortic diameter and blood pressure.
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PMID:Turner syndrome and the heart: cardiovascular complications and treatment strategies. 1472 55

Turner syndrome is due to haploinsufficiency of X chromosome genes that escape inactivation and associates female phenotype, short stature, gonadal dysgenesis, somatic stigmata, cardiovascular and renal anomalies and a large spectrum of other disorders (autoimmune thyroiditis, osteoporosis, inflammatory bowel disease, chronic liver diseases). The increased mortality in Turner syndrome is primarily a result of its cardiovascular complications. Congenital cardiac anomalies (coarctation of the aorta, bicuspid aortic valve, anomalous venous drainage) are present in 23-40% of patients; there is an increased risk of aortic dilation (42%) and dissection, ischemic heart disease and the risk of hypertension is increased three fold. In addition, insulin resistance may be present in up to 50% of women with Turner syndrome and an atherogenic lipid profile (increased cholesterol, triglycerides) favors the development of coronary artery disease. Our study was aimed to reveal anomalies in Turner syndrome that may increase cardiovascular risk. We studied a group of 62 Turner patients aged 16-67 years (mean age 26.8 years, SD = 11.1 years) comparatively to 62 age matched controls. Glycemia over 100 mg% was found in 11.3% of Turner patients vs 1.6% of controls and cholesterolemia over 200mg% was found in 51.2% of Turner patients vs 14.5% of controls; 24.2% of Turner patients were overweight vs 17.8% of controls and 6.4% were obese vs 4.8% of controls. In the Turner group we found congenital cardiac anomalies in 17.8%, hypertension in 6.5%, renal anomalies 11.3%, and hypothyroidism 29.2%.
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PMID:Cardiovascular risk factors in Turner syndrome. 1552 27

A case of Turner's syndrome complicated with intracerebral hemorrhage in a 21-year-old female is presented. The patient experienced acute onset of unconsciousness and the left-sided hemiparesis due to the right-sided putaminal hemorrhage. Severe hypertension was seen at the hospitalization. Cerebral angiography revealed no vascular lesion other than the displacement of lenticulostriate arteries. Emergent surgical evacuation of the hematoma was successfully performed with her favorable outcome. Postoperatively, several hormonal tests indicated hyperaldosteronemia secondary to the increased levels of ACTH and renin as a result of hyper-response to the environmental stress, leading to critical hypertension. Other examinations including CT scan, MRI, MRA, and laboratory data showed no abnormalities suggestive of renal lesions. It is supposed that hypertension, as a frequent presenting feature, should be strictly controlled in Turner's syndrome from the first time of diagnosis.
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PMID:[Putaminal hemorrhage in a case of Turner's syndrome with hyperaldosteronemia]. 1571 63

Turner syndrome is a common genetic disorder associated with abnormalities of the X chromosome and occurs in about 50 per 100,000 liveborn girls. It is associated with reduced adult height, gonadal dysgenesis and thus insufficient circulating levels of female sex steroids and infertility. Morbidity and mortality are increased throughout the lifespan. The average intellectual performance is within the normal range. A number of recent clinical studies have given new insight particularly into the adult phase of Turner syndrome. Treatment with growth hormone during childhood and adolescence enables a considerable gain in adult height. In most cases puberty has to be induced and female sex hormone replacement therapy is given during adulthood. Type 2 diabetes is often seen, and hypertension and associated cardiovascular disorders are frequent. The proper treatments of these disorders have not been firmly established. Since the risk of cardiovascular and endocrinological disease is clearly elevated, proper care during adulthood is crucial. Cognition and social functioning are altered in Turner syndrome.
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PMID:Turner syndrome in adulthood. 1628 80

In Spain, oocyte donors are selected from anonymous, well-informed university students over 18 years of age, who give their informed consent in writing. Before being accepted as donors, the candidates' personal and family medical histories were taken and they were given a gynaecological examination, genital ultrasonography, and analysed for viral infections and caryotype. The donors received economic compensation of about 900 euros. Among candidates for oocyte donation, 75% abandoned or were rejected following medical examination. The pregnancy rate was higher after transfer of fresh embryos (synchronous donor) (56%) as compared with frozen-tawned embryo transfer (46%). Among Turner's syndrome patients, cardiovascular complications are potentially the most severe during pregnancy, such as the exacerbation of a pre-existing hypertension and the dissection of aortic aneurysms. Logistic factors such as the travel and time commitment involved were major reasons for non-satisfaction of donors.
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PMID:[Indications and results of oocyte donation in Spain]. 1634 Sep 6

Turner's syndrome is defined as a congenital disease determining by quantitative and/or structural aberrations of one from two X chromosomes with frequent presence of mosaicism. Clinically it is characterized by growth and body proportion abnormalities, gonadal dysgenesis resulting in sexual infantilism, primary amenorrhoea, infertility, characteristic stigmata, anomalies of heart, renal and bones and the presence of some diseases like Hashimoto thyroiditis with hypothyroidism, diabetes mellitus type 2, osteoporosis, hypertension. Turner's syndrome occurs in 1:2000 to 1:2500 female livebirth. The most frequent X chromosome aberrations in patients with phenotype of Turner syndrome are as follows: X monosomy - 45,X; mosaicism (50-75%), including 45,X/46,XX (10-15%), 45,X/46,XY (2-6%), 45,X/46,X,i(Xq), 45,X/46,X,del(Xp), 45,X/46,XX/47,XXX; aberration of X structure: total or partial deletion of short arm of X chromosome (46,X,del(Xp)) isochromosom of long arm of X chromosome (46,X,(i(Xq)), ring chromosome (46, X,r(X)), marker chromosome (46,X+m). Searching of X chromosome and mapping and sequencing of genes located at this chromosome (such as SHOX, ODG2, VSPA, SOX 3) have made possible to look for linkage between phenotypes and adequate genes or regions of X chromosome. In this paper current data concerning correlation between phenotype and karyotype in patients with TS have been presented.
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PMID:[Turner's syndrome--correlation between karyotype and phenotype]. 1682 Dec 24

Turner syndrome (TS) is a common genetic disorder, resulting from the partial or complete absence of one sex chromosome, and occurring in approximately 50 per 100,000 liveborn girls. TS is associated with reduced adult height and with gonadal dysgenesis, leading to insufficient circulating levels of female sex steroids and to infertility. Morbidity and mortality are increased in TS but average intellectual performance is within the normal range. A number of recent studies have allowed new insights to be gained with respect to epidemiology, genetics, cardiology, endocrinology and metabolism. Elucidation of the effects of short stature homeobox protein deficiency has explained some of the phenotypic characteristics in TS, principally short stature. Treatment with growth hormone during childhood and adolescence allows a considerable gain in adult height, although the consequences of this treatment in the very long term are not clear. Puberty must be induced in most cases, and female sex hormone replacement therapy (HRT) is given during adult years. The optimal dose of HRT has not been established and, likewise, the benefits and drawbacks of HRT have not been thoroughly evaluated. The risks of type 2 diabetes, type 1 diabetes, hypothyroidism, osteoporosis, congenital heart disease, hypertension, ischemic heart disease, aortic dilatation and dissection, inflammatory bowel disease and celiac disease are clearly elevated, and proper care during adulthood is important. Currently no firm guidelines for diagnosis exist. In conclusion, TS is a condition associated with a number of diseases and conditions that are reviewed in the present paper. Individuals with TS need life-long medical attention.
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PMID:Clinical practice in Turner syndrome. 1692 65

Turner syndrome occurs in 1:5000 live births (1:2,500 females) and is caused not only by X-chromosome monosomy, but also in a large degree, by the presence of a mosaicism (45,X) and/or an abnormal X or Y chromosome (deletion, isochromosome X, dicentric chromosome). Clinical features are heterogeneous and typical physical anomalies are often mild or absent. In all cases, patients are short but final height has been improved by growth hormone therapy. Ovarian failure, with variable onset depending on the chromosomal anomalies, is frequent. Others visceral diseases (bone anomalies, lymphedema, deafness, and cardiovascular, thyroid, gastrointestinal diseases) are less common and need a screening at diagnosis, then a survey during adolescence and adulthood. During gestation, typical forms can be diagnosed by ultrasound examination, but mild forms are discovered incidentally during amniocentesis for unrelated reasons (advanced maternal age) and prenatal advice is difficult. The quality of life and social life is better when puberty is not induced too late, and in absence of cardiac disease or deafness. Deafness can lead to learning difficulties and, during adulthood, sterility can have a negative effect on quality of life. The prognosis depends on heart diseases, obesity, arterial hypertension and osteoporosis. Therefore, a long-term follow-up is necessary.
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PMID:[Turner syndrome]. 1732 33

We herein report the performance of a successful, modified Bentall procedure and a total arch replacement for a Stanford type A chronic aortic dissection and a bicuspid aortic valve in Turner's syndrome (TS). The patient was a 45-year-old woman with 45, XO karyotype TS, who had had a history of hypertension since the age of 20. She had also been diagnosed as having a dilatation of the ascending aorta and a bicuspid aortic valve 3 years earlier. The patient became aware of back pain 6 months prior to the current admission, and was diagnosed as having a Stanford type A chronic aortic dissection and a bicuspid aortic valve with mild aortic regurgitation. One of the greatest concerns in TS is the risk of aortic dissection. Regarding the operation, aortic root replacement is one of the options for a bicuspid aortic valve so as to avoid high-risk surgical procedures in TS.
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PMID:Aortic dissecting aneurysm with a bicuspid aortic valve in Turner's syndrome: report of a case. 1764 11


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